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The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
Greco E, Aita A, Galozzi P, Gava A, Sfriso P, Negm OH, Tighe P, Caso F, Navaglia F, Dazzo E, De Bortoli M, Rampazzo A, Obici L, Donadei S, Merlini G, Plebani M, Todd I, Basso D, Punzi L. Greco E, et al. Among authors: donadei s. Arthritis Res Ther. 2015 Apr 3;17(1):93. doi: 10.1186/s13075-015-0604-7. Arthritis Res Ther. 2015. PMID: 25888769 Free PMC article.
The intracellular quality control system down-regulates the secretion of amyloidogenic apolipoprotein A-I variants: a possible impact on the natural history of the disease.
Marchesi M, Parolini C, Valetti C, Mangione P, Obici L, Giorgetti S, Raimondi S, Donadei S, Gregorini G, Merlini G, Stoppini M, Chiesa G, Bellotti V. Marchesi M, et al. Among authors: donadei s. Biochim Biophys Acta. 2011 Jan;1812(1):87-93. doi: 10.1016/j.bbadis.2010.07.002. Epub 2010 Jul 15. Biochim Biophys Acta. 2011. PMID: 20637862 Free article.
Identification of amyloidogenic light chains requires the combination of serum-free light chain assay with immunofixation of serum and urine.
Palladini G, Russo P, Bosoni T, Verga L, Sarais G, Lavatelli F, Nuvolone M, Obici L, Casarini S, Donadei S, Albertini R, Righetti G, Marini M, Graziani MS, Melzi D'Eril GV, Moratti R, Merlini G. Palladini G, et al. Among authors: donadei s. Clin Chem. 2009 Mar;55(3):499-504. doi: 10.1373/clinchem.2008.117143. Epub 2009 Jan 8. Clin Chem. 2009. PMID: 19131635 Free article.
12 results